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Cellosaurus ICGi042-A (CVCL_C1TN)

[Text version]
Cell line name ICGi042-A
Synonyms PD12-4Lm
Accession CVCL_C1TN
Resource Identification Initiative To cite this cell line use: ICGi042-A (RRID:CVCL_C1TN)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Omics: Deep exome analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Glu334Lys (c.1000G>A); ClinVar=VCV000039128; Zygosity=Heterozygous (hPSCreg=ICGi042-A).
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Ile723Val (c.2167A>G); ClinVar=VCV000039146; Zygosity=Heterozygous (hPSCreg=ICGi042-A).
  • Mutation; HGNC; 14581; PINK1; Simple; p.Asn521Thr (c.1562A>C); ClinVar=VCV000295006; Zygosity=Heterozygous (hPSCreg=ICGi042-A).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C1TP ! ICGi042-B
Sex of cell Male
Age at sampling 75-79Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; ICGi042-A
Biological sample resources BioSamples; SAMEA110644571
Encyclopedic resources Wikidata; Q114311699
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4